ClinVar for Gene (Select 974) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3140671	NM_000626.4(CD79B):c.589G>C (p.Glu197Gln)	CD79B, GH-LCR (E198Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140670	NM_000626.4(CD79B):c.214G>A (p.Gly72Ser)	CD79B, GH-LCR (G73S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3042942	NM_000626.4(CD79B):c.-8C>T	CD79B, GH-LCR	Single nucleotide variant (5 prime UTR variant)	CD79B-related disorder	GLikely benign
Select item 2982380	NM_000626.4(CD79B):c.67+19G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2966614	NM_000626.4(CD79B):c.549+13C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2962082	NM_000626.4(CD79B):c.431-18C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2912316	NM_000626.4(CD79B):c.24T>C (p.Pro8=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2908713	NM_000626.4(CD79B):c.279G>A (p.Lys93=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2893306	NM_000626.4(CD79B):c.132G>A (p.Ser44=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2883369	NM_000626.4(CD79B):c.534C>T (p.Phe178=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2868228	NM_000626.4(CD79B):c.68-7C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2852955	NM_000626.4(CD79B):c.225C>T (p.Ser75=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2830717	NM_000626.4(CD79B):c.245T>G (p.Met82Arg)	CD79B, GH-LCR (M82R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2812442	NM_000626.4(CD79B):c.144G>A (p.Gln48=)	CD79B, GH-LCR	Single nucleotide variant (intron variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2810599	NM_000626.4(CD79B):c.550-19C>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2788648	NM_000626.4(CD79B):c.549+9G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2777126	NM_000626.4(CD79B):c.431-20C>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2738300	NM_000626.4(CD79B):c.364_366del (p.Cys122del)	CD79B, GH-LCR (C122del +1 more)	Deletion (intron variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2717942	NM_000626.4(CD79B):c.431-13C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2698080	NM_000626.4(CD79B):c.549+9G>C	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2618349	NM_000626.4(CD79B):c.484A>G (p.Ile162Val)	CD79B, GH-LCR (I162V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573989	NM_000626.4(CD79B):c.586T>C (p.Tyr196His)	CD79B, GH-LCR (Y196H +3 more)	Single nucleotide variant (missense variant)	Malignant lymphoma, large B-cell, diffuse	GLikely pathogenic
Select item 2478032	NM_000626.4(CD79B):c.317C>T (p.Thr106Ile)	CD79B, GH-LCR (T106I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422914	NC_000017.10:g.(?_62006586)_(62050201_?)dup	CD79B, SCN4A	Duplication	Hyperkalemic periodic paralysis	GUncertain significance
Select item 2403822	NM_000626.4(CD79B):c.101G>A (p.Arg34Gln)	CD79B, GH-LCR (R34Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291463	NM_000626.4(CD79B):c.664G>C (p.Val222Leu)	CD79B, GH-LCR (V222L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2197619	NM_000626.4(CD79B):c.431-15C>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2196836	NM_000626.4(CD79B):c.431-8_431-7delinsTG	CD79B, GH-LCR	Indel (intron variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2192553	NM_000626.4(CD79B):c.462G>A (p.Arg154=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2192446	NM_000626.4(CD79B):c.387C>T (p.Thr129=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2191431	NM_000626.4(CD79B):c.621T>C (p.Tyr207=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2180016	NM_000626.4(CD79B):c.67+16C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2171274	NM_000626.4(CD79B):c.162C>T (p.Ala54=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2168046	NM_000626.4(CD79B):c.523G>A (p.Val175Met)	CD79B, GH-LCR (V72M +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive +1 more	GUncertain significance
Select item 2166286	NM_000626.4(CD79B):c.363C>T (p.Phe121=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2165425	NM_000626.4(CD79B):c.93G>A (p.Ser31=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2147475	NM_000626.4(CD79B):c.549+20A>G	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2139982	NM_000626.4(CD79B):c.362T>G (p.Phe121Cys)	CD79B, GH-LCR (F121C +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2139630	NM_000626.4(CD79B):c.429G>A (p.Met143Ile)	CD79B, GH-LCR (M143I +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2122846	NM_000626.4(CD79B):c.118+15C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2107955	NM_000626.4(CD79B):c.431-18C>G	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2095290	NM_000626.4(CD79B):c.584C>G (p.Thr195Ser)	CD79B, GH-LCR (T195S +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2091231	NM_000626.4(CD79B):c.549+17G>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2064670	NM_000626.4(CD79B):c.67+14G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2063964	NM_000626.4(CD79B):c.170G>C (p.Arg57Pro)	CD79B, GH-LCR (R57P +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 2044653	NM_000626.4(CD79B):c.591+16G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2035242	NM_000626.4(CD79B):c.669T>C (p.Gly223=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 2014428	NM_000626.4(CD79B):c.294G>A (p.Glu98=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1993382	NM_000626.4(CD79B):c.480T>A (p.Gly160=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1986905	NM_000626.4(CD79B):c.641G>A (p.Arg214Gln)	CD79B, GH-LCR (R215Q +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1983157	NM_000626.4(CD79B):c.571G>C (p.Glu191Gln)	GH-LCR, CD79B (E192Q +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1975868	NM_000626.4(CD79B):c.124G>A (p.Ala42Thr)	CD79B, GH-LCR (A43T +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1967700	NM_000626.4(CD79B):c.256C>A (p.Pro86Thr)	CD79B, GH-LCR (P87T +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1964958	NM_000626.4(CD79B):c.431-20C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1964784	NM_000626.4(CD79B):c.299A>G (p.Gln100Arg)	CD79B, GH-LCR (Q100R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1950880	NM_000626.4(CD79B):c.94G>C (p.Glu32Gln)	CD79B, GH-LCR (E32Q +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1941107	NM_000626.4(CD79B):c.501G>A (p.Leu167=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1929246	NM_000626.4(CD79B):c.160G>A (p.Ala54Thr)	CD79B, GH-LCR (A55T +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1917206	NM_000626.4(CD79B):c.217A>G (p.Asn73Asp)	GH-LCR, CD79B (N74D +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1898111	NM_000626.4(CD79B):c.672G>A (p.Glu224=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 1667496	NM_000626.4(CD79B):c.100C>A (p.Arg34=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1663861	NM_000626.4(CD79B):c.549+11G>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1657457	NM_000626.4(CD79B):c.550-17T>C	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GBenign
Select item 1657232	NM_000626.4(CD79B):c.550-6C>T	GH-LCR, CD79B	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1655591	NM_000626.4(CD79B):c.67+9C>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1654406	NM_000626.4(CD79B):c.67+17G>C	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GBenign
Select item 1646126	NM_000626.4(CD79B):c.585C>G (p.Thr195=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1634840	NM_000626.4(CD79B):c.636G>A (p.Thr212=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1627230	NM_000626.4(CD79B):c.68-5A>G	CD79B, GH-LCR	Single nucleotide variant (intron variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1626017	NM_000626.4(CD79B):c.405C>T (p.Gly135=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1625245	NM_000626.4(CD79B):c.118+13G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1612053	NM_000626.4(CD79B):c.567C>T (p.Gly189=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1607404	NM_000626.4(CD79B):c.408C>T (p.Cys136=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1605978	NM_000626.4(CD79B):c.522C>T (p.Ile174=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1603116	NM_000626.4(CD79B):c.261G>A (p.Gln87=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1593468	NM_000626.4(CD79B):c.255T>C (p.Asn85=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1575569	NM_000626.4(CD79B):c.549+16G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1574828	NM_000626.4(CD79B):c.118+19C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1573671	NM_000626.4(CD79B):c.431-19C>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1570806	NM_000626.4(CD79B):c.549+11del	CD79B, GH-LCR	Deletion (intron variant)	Agammaglobulinemia 6, autosomal recessive	GBenign
Select item 1568512	NM_000626.4(CD79B):c.75A>C (p.Pro25=)	GH-LCR, CD79B	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1558038	NM_000626.4(CD79B):c.549+11G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1556976	NM_000626.4(CD79B):c.351T>C (p.Asn117=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1554738	NM_000626.4(CD79B):c.67+18A>G	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1545222	NM_000626.4(CD79B):c.354C>T (p.Gly118=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1538450	NM_000626.4(CD79B):c.282C>T (p.Gly94=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1513391	NM_000626.4(CD79B):c.467C>T (p.Thr156Met)	CD79B, GH-LCR (T52M +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1513156	NM_000626.4(CD79B):c.329A>G (p.Gln110Arg)	GH-LCR, CD79B (Q111R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1504174	NM_000626.4(CD79B):c.389C>T (p.Ser130Leu)	CD79B, GH-LCR (S130L +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1489625	NM_000626.4(CD79B):c.552T>A (p.Asp184Glu)	CD79B, GH-LCR (D185E +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1488824	NM_000626.4(CD79B):c.152G>A (p.Arg51His)	CD79B, GH-LCR (R51H +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1471750	NM_000626.4(CD79B):c.205A>G (p.Ser69Gly)	CD79B, GH-LCR (S69G +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1462264	NM_000626.4(CD79B):c.664G>A (p.Val222Ile)	CD79B, GH-LCR (V118I +3 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1441648	NM_000626.4(CD79B):c.67+3A>G	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1437604	NM_000626.4(CD79B):c.591+4A>T	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1430567	NM_000626.4(CD79B):c.379A>G (p.Asn127Asp)	CD79B, GH-LCR (N127D +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1426507	NM_000626.4(CD79B):c.591+13G>A	CD79B, GH-LCR	Single nucleotide variant (intron variant)	Agammaglobulinemia 6, autosomal recessive	GLikely benign
Select item 1418607	NM_000626.4(CD79B):c.591G>A (p.Glu197=)	CD79B, GH-LCR	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance

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